Common genetic risk factors of venous thromboembolism in Western and Asian populations

Genetics and Molecular Research

Volumn 15, Issue 1, 2016, Pages

  Huang, S S ^a   Liu, Y ^b   Jing, Z C ^c   Wang, X J ^c   Mao, Y M ^a  

^a HENAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^b THE FIRST AFFILIATED HOSPITAL OF ZHENGZHOU UNIVERSITY   (China)

^c FUWAI HOSPITAL   (China)

Author keywords

Asian population; DNA; Genetics; Genome wide association study; Venous thromboembolism

Indexed keywords

ANTITHROMBIN; BINDING PROTEIN; BLOOD CLOTTING FACTOR 5; GLYCOPROTEIN VI; HUMAN IMMUNODEFICIENCY VIRUS TYPE I ENHANCER BINDING PROTEIN 1; KININOGEN; PROTEIN C; PROTEIN S; PROTHROMBIN; THROMBOMODULIN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ANTITHROMBIN DEFICIENCY; ASIAN; BLOOD CLOTTING; BLOOD GROUP ABO SYSTEM; DNA SEQUENCE; FIBRINOLYSIS; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HIVEP1 GENE; HUMAN; KNG1 GENE; MOLECULAR PATHOLOGY; NEXT GENERATION SEQUENCING; PREDICTION; PREVALENCE; PROC GENE; PROS1 GENE; PROTEIN EXPRESSION; REVIEW; RISK FACTOR; THBD GENE; VENOUS THROMBOEMBOLISM; ASIAN CONTINENTAL ANCESTRY GROUP; CAUCASIAN; ETHNIC GROUP; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY;

ASIAN CONTINENTAL ANCESTRY GROUP; ETHNIC GROUPS; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; PREVALENCE; RISK FACTORS; SEQUENCE ANALYSIS, DNA; VENOUS THROMBOEMBOLISM;

EID: 84961690116     PISSN: None     EISSN: 16765680     Source Type: Journal    
DOI: 10.4238/gmr.15017644     Document Type: Review

References (56)

1. Angchaisuksiri P, Pingsuthiwong S, Aryuchai K, Busabaratana M, et al. (2000). Prevalence of the G1691A mutation in the factor V gene (factor V Leiden) and the G20210A prothrombin gene mutation in the Thai population. Am. J. Hematol. 65: 119-122. http: //dx. doi. org/10. 1002/1096-8652(200010)65: 2<119:: AID-AJH5>3. 0. CO; 2-8
2. Bertina RM, Koeleman BP, Koster T, Rosendaal FR, et al. (1994). Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 369: 64-67. http: //dx. doi. org/10. 1038/369064a0
3. Bezemer ID, Bare LA, Doggen CJ, Arellano AR, et al. (2008). Gene variants associated with deep vein thrombosis. JAMA 299: 1306-1314. http: //dx. doi. org/10. 1001/jama. 299. 11. 1306
4. Bucciarelli P, De Stefano V, Passamonti SM, Tormene D, et al. (2013). Influence of proband's characteristics on the risk for venous thromboembolism in relatives with factor V Leiden or prothrombin G20210A polymorphisms. Blood 122: 2555- 2561. http: //dx. doi. org/10. 1182/blood-2013-05-503649
5. Christiansen SC, Cannegieter SC, Koster T, Vandenbroucke JP, et al. (2005). Thrombophilia, clinical factors, and recurrent venous thrombotic events. JAMA 293: 2352-2361. http: //dx. doi. org/10. 1001/jama. 293. 19. 2352
6. Cohen W, Castelli C, Alessi MC, Aillaud MF, et al. (2012). ABO blood group and von Willebrand factor levels partially explained the incomplete penetrance of congenital thrombophilia. Arterioscler. Thromb. Vasc. Biol. 32: 2021-2028. http: //dx. doi. org/10. 1161/ATVBAHA. 112. 248161
7. Comp PC and Esmon CT (1984). Recurrent venous thromboembolism in patients with a partial deficiency of protein S. N. Engl. J. Med. 311: 1525-1528.
8. Corral J, Hernandez-Espinosa D, Soria JM, Gonzalez-Conejero R, et al. (2007). Antithrombin Cambridge II (A384S): an underestimated genetic risk factor for venous thrombosis. Blood 109: 4258-4263. http: //dx. doi. org/10. 1182/ blood-2006-08-040774
9. Dahlbäck B (2008). Advances in understanding pathogenic mechanisms of thrombophilic disorders. Blood 112: 19-27. http: // dx. doi. org/10. 1182/blood-2008-01-077909
10. Dahlbäck B and Villoutreix BO (2005). Regulation of blood coagulation by the protein C anticoagulant pathway: novel insights into structure-function relationships and molecular recognition. Arterioscler. Thromb. Vasc. Biol. 25: 1311-1320. http: // dx. doi. org/10. 1161/01. ATV. 0000168421. 13467. 82
11. Dennis J, Johnson CY, Adediran AS, de Andrade M, et al (2012). The endothelial protein C receptor (PROCR) Ser219Gly variant and risk of common thrombotic disorders: a HuGE review and meta-analysis of evidence from observational studies. Blood 119: 2392-2400.
12. Egeberg O (1965). Inherited antithrombin deficiency causing thrombophilia. Thromb. Diath. Haemorrh. 13: 516-530.
13. Esmon CT and Owen WG (1981). Identification of an endothelial cell cofactor for thrombin-catalyzed activation of protein C. Proc. Natl. Acad. Sci. USA 78: 2249-2252. http: //dx. doi. org/10. 1073/pnas. 78. 4. 2249
14. Gandrille S, Borgel D, Sala N, Espinosa-Parrilla Y, et al.; Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis (2000). Protein S deficiency: a database of mutations--summary of the first update. Thromb. Haemost. 84: 918.
15. Griffin JH, Evatt B, Zimmerman TS, Kleiss AJ, et al. (1981). Deficiency of protein C in congenital thrombotic disease. J. Clin. Invest. 68: 1370-1373. http: //dx. doi. org/10. 1172/JCI110385
16. Hamasaki N, Kuma H and Tsuda H (2013). Activated protein C anticoagulant system dysfunction and thrombophilia in Asia. Ann. Lab. Med. 33: 8-13. http: //dx. doi. org/10. 3343/alm. 2013. 33. 1. 8
17. Heit JA, Armasu SM, Asmann YW, Cunningham JM, et al. (2012). A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24. 2 and 9q. J. Thromb. Haemost. 10: 1521-1531. http: //dx. doi. org/10. 1111/ j. 1538-7836. 2012. 04810. x
18. Ho CH (2000). Prevalence of prothrombin 20210A allele and methylenetetrahydrofolate reductase C677T genetic mutations in the Chinese population. Ann. Hematol. 79: 239-242.
19. Howard LS and Hughes RJ (2013). NICE guideline: management of venous thromboembolic diseases and role of thrombophilia testing. Thorax 68: 391-393. http: //dx. doi. org/10. 1136/thoraxjnl-2012-202376
20. Ikejiri M, Wada H, Sakamoto Y, Ito N, et al. (2010). The association of protein S Tokushima-K196E with a risk of deep vein thrombosis. Int. J. Hematol. 92: 302-305. http: //dx. doi. org/10. 1007/s12185-010-0671-0
21. Jick H, Slone D, Westerholm B, Inman WH, et al. (1969). Venous thromboembolic disease and ABO blood type. A cooperative study. Lancet 293: 539-542. http: //dx. doi. org/10. 1016/S0140-6736(69)91955-2
22. Kalafatis M, Rand MD and Mann KG (1994). The mechanism of inactivation of human factor V and human factor Va by activated protein C. J. Biol. Chem. 269: 31869-31880.
23. Kimura R, Honda S, Kawasaki T, Tsuji H, et al. (2006). Protein S-K196E mutation as a genetic risk factor for deep vein thrombosis in Japanese patients. Blood 107: 1737-1738. http: //dx. doi. org/10. 1182/blood-2005-09-3892
24. Kinoshita S, Iida H, Inoue S, Watanabe K, et al. (2005). Protein S and protein C gene mutations in Japanese deep vein thrombosis patients. Clin. Biochem. 38: 908-915. http: //dx. doi. org/10. 1016/j. clinbiochem. 2005. 05. 006
25. Ko YL, Hsu TS, Wu SM, Ko YS, et al. (1996). The G1691A mutation of the coagulation factor V gene (factor V Leiden) is rare in Chinese: an analysis of 618 individuals. Hum. Genet. 98: 176-177.
26. Lijfering WM, Middeldorp S, Veeger NJ, Hamulyák K, et al. (2010). Risk of recurrent venous thrombosis in homozygous carriers and double heterozygous carriers of factor V Leiden and prothrombin G20210A. Circulation 121: 1706-1712. http: //dx. doi. org/10. 1161/CIRCULATIONAHA. 109. 906347
27. Lindmarker P, Schulman S, Sten-Linder M, Wiman B, et al. (1999). The risk of recurrent venous thromboembolism in carriers and non-carriers of the G1691A allele in the coagulation factor V gene and the G20210A allele in the prothrombin gene. DURAC Trial Study Group. Duration of Anticoagulation. Thromb. Haemost. 81: 684-689.
28. Manolio TA (2013). Bringing genome-wide association findings into clinical use. Nat. Rev. Genet. 14: 549-558. http: //dx. doi. org/10. 1038/nrg3523
29. McGrath RT, McKinnon TA, Byrne B, O'Kennedy R, et al. (2010). Expression of terminal alpha2-6-linked sialic acid on von Willebrand factor specifically enhances proteolysis by ADAMTS13. Blood 115: 2666-2673. http: //dx. doi. org/10. 1182/ blood-2009-09-241547
30. Miyata T, Sakata T, Yasumuro Y, Okamura T, et al. (1998). Genetic analysis of protein C deficiency in nineteen Japanese families: five recurrent defects can explain half of the deficiencies. Thromb. Res. 92: 181-187. http: //dx. doi. org/10. 1016/ S0049-3848(98)00131-5
31. Miyata T, Sato Y, Ishikawa J, Okada H, et al. (2009). Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis. Thromb. Res. 124: 14-18. http: //dx. doi. org/10. 1016/j. thromres. 2008. 08. 020
32. Miyata T, Hamasaki N, Wada H and Kojima T (2012). More on: racial differences in venous thromboembolism. J. Thromb. Haemost. 10: 319-320. http: //dx. doi. org/10. 1111/j. 1538-7836. 2011. 04578. x
33. Morange PE and Tregouet DA (2010). Deciphering the molecular basis of venous thromboembolism: where are we and where should we go? Br. J. Haematol. 148: 495-506. http: //dx. doi. org/10. 1111/j. 1365-2141. 2009. 07975. x
34. Morange PE, Bezemer I, Saut N, Bare L, et al. (2010). A follow-up study of a genome-wide association scan identifies a susceptibility locus for venous thrombosis on chromosome 6p24. 1. Am. J. Hum. Genet. 86: 592-595. http: //dx. doi. org/10. 1016/j. ajhg. 2010. 02. 011
35. Morange PE, Oudot-Mellakh T, Cohen W, Germain M, et al. (2011). KNG1 Ile581Thr and susceptibility to venous thrombosis. Blood 117: 3692-3694. http: //dx. doi. org/10. 1182/blood-2010-11-319053
36. Ohira T, Cushman M, Tsai MY, Zhang Y, et al. (2007). ABO blood group, other risk factors and incidence of venous thromboembolism: the Longitudinal Investigation of Thromboembolism Etiology (LITE). J. Thromb. Haemost. 5: 1455- 1461. http: //dx. doi. org/10. 1111/j. 1538-7836. 2007. 02579. x
37. Perry DJ, Daly M, Harper PL, Tait RC, et al. (1991). Antithrombin Cambridge II, 384 Ala to Ser. Further evidence of the role of the reactive centre loop in the inhibitory function of the serpins. FEBS Lett. 285: 248-250. http: //dx. doi. org/10. 1016/0014- 5793(91)80809-H
38. Poort SR, Rosendaal FR, Reitsma PH and Bertina RM (1996). A common genetic variation in the 3¢-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 88: 3698-3703.
39. Sandset PM (2013). Genotype of proband and thrombophilia screening. Blood 122: 2528-2529. http: //dx. doi. org/10. 1182/ blood-2013-08-519801
40. Shaheen K, Alraies MC, Alraiyes AH and Christie R (2012). Factor V Leiden: how great is the risk of venous thromboembolism? Cleve. Clin. J. Med. 79: 265-272. http: //dx. doi. org/10. 3949/ccjm. 79a. 11072
41. Smith NL, Rice KM, Bovill EG, Cushman M, et al. (2011). Genetic variation associated with plasma von Willebrand factor levels and the risk of incident venous thrombosis. Blood 117: 6007-6011. http: //dx. doi. org/10. 1182/blood-2010-10-315473
42. Stein PD, Kayali F, Olson RE and Milford CE (2004). Pulmonary thromboembolism in Asians/Pacific Islanders in the United States: analysis of data from the National Hospital Discharge Survey and the United States Bureau of the Census. Am. J. Med. 116: 435-442. http: //dx. doi. org/10. 1016/j. amjmed. 2003. 11. 020
43. Tang L, Guo T, Yang R, Mei H, et al. (2012a). Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis in Chinese population. PLoS One 7: e35773. http: //dx. doi. org/10. 1371/ journal. pone. 0035773
44. Tang L, Lu X, Yu JM, Wang QY, et al. (2012b). PROC c. 574_576del polymorphism: a common genetic risk factor for venous thrombosis in the Chinese population. J. Thromb. Haemost. 10: 2019-2026. http: //dx. doi. org/10. 1111/j. 1538- 7836. 2012. 04862. x
45. Tang L, Jian XR, Hamasaki N, Guo T, et al. (2013a). Molecular basis of protein S deficiency in China. Am. J. Hematol. 88: 899-905. http: //dx. doi. org/10. 1002/ajh. 23525
46. Tang L, Wang HF, Lu X, Jian XR, et al. (2013b). Common genetic risk factors for venous thrombosis in the Chinese population. Am. J. Hum. Genet. 92: 177-187. http: //dx. doi. org/10. 1016/j. ajhg. 2012. 12. 013
47. Trégouët DA, Heath S, Saut N, Biron-Andreani C, et al. (2009). Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach. Blood 113: 5298-5303. http: //dx. doi. org/10. 1182/blood-2008-11-190389
48. Tsay W and Shen MC (2004). R147W mutation of PROC gene is common in venous thrombotic patients in Taiwanese Chinese. Am. J. Hematol. 76: 8-13. http: //dx. doi. org/10. 1002/ajh. 20043
49. Uitte de Willige S, de Visser MC, Houwing-Duistermaat JJ, Rosendaal FR, et al. (2005). Genetic variation in the fibrinogen gamma gene increases the risk for deep venous thrombosis by reducing plasma fibrinogen gamma' levels. Blood 106: 4176-4183.
50. Weiler H and Isermann BH (2003). Thrombomodulin. J. Thromb. Haemost. 1: 1515-1524. http: //dx. doi. org/10. 1046/j. 1538- 7836. 2003. 00306. x
51. Wu LC (2002). ZAS: C2H2 zinc finger proteins involved in growth and development. Gene Expr. 10: 137-152. http: //dx. doi. org/10. 3727/000000002783992479
52. Wu O, Bayoumi N, Vickers MA and Clark P (2008). ABO(H) blood groups and vascular disease: a systematic review and meta-analysis. J. Thromb. Haemost. 6: 62-69. http: //dx. doi. org/10. 1111/j. 1538-7836. 2007. 02818. x
53. Yin T and Miyata T (2014). Dysfunction of protein C anticoagulant system, main genetic risk factor for venous thromboembolism in northeast Asians. J. Thromb. Thrombolysis 37: 56-65. http: //dx. doi. org/10. 1007/s11239-013-1005-x
54. Yin T, Takeshita S, Sato Y, Sakata T, et al. (2007). A large deletion of the PROS1 gene in a deep vein thrombosis patient with protein S deficiency. Thromb. Haemost. 98: 783-789.
55. Zakai NA and McClure LA (2011). Racial differences in venous thromboembolism. J. Thromb. Haemost. 9: 1877-1882. http: // dx. doi. org/10. 1111/j. 1538-7836. 2011. 04443. x
56. Zhang GS, Tang YM, Tang MQ, Qing ZJ, et al. (2010). Antithrombin Cambridge II(A384S) mutation frequency and antithrombin activity levels in 120 of deep venous thrombosis and 150 of cerebral infarction patients in a single center in Southern China. Blood Coagul. Fibrinolysis 21: 588-591. http: //dx. doi. org/10. 1097/MBC. 0b013e32833dbe68